Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card

被引：12

作者：

Yu-Wai-Man, Cynthia ^{[1
,2
,3
]}

Arno, Gavin ^{[1
,2
,3
]}

Brookes, John ^{[3
,4
]}

Garcia-Feijoo, Julian ^{[5
,6
,7
]}

Khaw, Peng Tee ^{[1
,2
,3
]}

Moosajee, Mariya ^{[1
,2
,3
,4
]}

机构：

[1] Moorfields Eye Hosp NHS Fdn Trust, Biomed Res Ctr, NIHR, London EC1V 9EL, England

[2] UCL Inst Ophthalmol, London EC1V 9EL, England

[3] Moorfields Eye Hosp, London EC1V 2PD, England

[4] Great Ormond St Hosp Sick Children, London WC1N 3JH, England

[5] Clin San Carlos Univ Hosp, Ophthalmol Dept, Madrid, Spain

[6] Clin San Carlos Univ Hosp, Inst Invest Sanitaria, Madrid, Spain

[7] Univ Complutense, Cooperat Res Network Age Related Ocular Pathol Vi, Inst Salud Carlos III, Madrid, Spain

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷 / 11期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

COPY NUMBER VARIATION; SAUDI-ARABIA; CYP1B1; FEATURES; PATHOGENESIS; MUTATIONS; BLINDNESS; CHILDREN; REGISTRY; LTBP2;

D O I：

10.1038/s41431-018-0227-y

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

1. Name of the disease (synonyms): Primary congenital glaucoma (PCG). Glaucoma, congenital (GLC). 2. OMIM# of the disease: 231300- GLC3A. 600975- GLC3B. 613085- GLC3C. 613086- GLC3D. 617272- GLC3E. 3. Name of the analysed genes or DNA/chromosome segments: CYP1B1. LTBP2. MYOC. FOXC1. TEK. 4. OMIM# of the gene(s): CYP1B1 MIM# 601771. LTBP2 MIM# 602091. MYOC MIM# 601652. FOXC1 MIM# 601090. TEK MIM# 600221. Review of the analytical and clinical validity, as well as of the clinical utility of DNA-based testing for variants in theCYP1B1, LTBP2andMYOCgene(s) in. © 2018, European Society of Human Genetics.

引用

页码：1713 / 1718

页数：6

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